rs33948578

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs33948578(G;G)

Make rs33948578(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226794

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33948578
dbSNP (classic)	rs33948578
ClinGen	rs33948578
ebi	rs33948578
HLI	rs33948578
Exac	rs33948578
Gnomad	rs33948578
Varsome	rs33948578
LitVar	rs33948578
Map	rs33948578
PheGenI	rs33948578
Biobank	rs33948578
1000 genomes	rs33948578
hgdp	rs33948578
ensembl	rs33948578
geneview	rs33948578
scholar	rs33948578
google	rs33948578
pharmgkb	rs33948578
gwascentral	rs33948578
openSNP	rs33948578
23andMe	rs33948578
SNPshot	rs33948578
SNPdbe	rs33948578
MSV3d	rs33948578
GWAS Ctlg	rs33948578

Max Magnitude

0

OMIM	141900
Desc
Variant	0044
Related	also

OMIM	141900
Desc
Variant	0218
Related	also

OMIM	141900
Desc
Variant	0444
Related	also

ClinVar
Risk	rs33948578(A;A) rs33948578(C;C) rs33948578(G;G)
Alt	rs33948578(A;A) rs33948578(C;C) rs33948578(G;G)
Reference	Rs33948578(T;T)
Significance	Other
Disease	HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE
Reversed	1
HGVS	NC_000011.9:g.5248024A>C; NC_000011.9:g.5248024A>G; NC_000011.9:g.5248024A>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016295.2, RCV000016546.2, RCV000016547.2, RCV000016548.2, RCV000016807.2,

[PMID 402773] Congenital Heinz body haemolytic anaemia due to haemoglobin Perth in a Nama child seemingly aggravated by the high nitrate content of the water supply.

[PMID 4127713] Haemoglobin Perth: beta-32 (B14) Leu leads to Pro, an unstable haemoglobin causing haemolysis.

[PMID 4352462 ] Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic disease.

[PMID 11939520] Unstable Hb Perth in a Taiwanese subject: a T-->C substitution at codon 32 of the beta-globin gene creates an MspI site.

[PMID 14649317] Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.

[PMID 7660732] Morphohistochemical relationships between adrenal cortex and major salivary glands in response to chronic suramin treatment.